Phenotypes for disease #00003 (ALS (Amyotrophic Lateral Sclerosis), OMIM:105400)

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Phenotype details: Additional information on the phenotype of the individual.

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
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Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Complex

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508 entries on 6 pages. Showing entries 1 - 100.

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Phenotype ID	Phenotype details	Inheritance	Owner	Individual ID
0000000042	Age at onset varied from 6 to 55; the initial symptoms occurred in either the lower or upper extremities in different family members. The duration of the disease varied from 3 to 38 years. Two subjects, aged 59 and 34, remained asymptomatic until their death from other causes, although their offspring carrying the same mutation have already developed clinical evidence of the disease.	Familial	XY Liu	00006178
0000000043	Unusual pathological features included neurofibrillary tangles in neurons of the globus pallidus, substantia nigra, locus coeruleus, and inferior olivary nuclei, and absence of ubiquitin immunoreactive inclusions in motor neurons.	Familial, autosomal dominant	XY Liu	00006179
0000000044	The patients in these families are clinically characterized by relative late onset, initial involvement in lower extremities, relative rare impairment of bulbar muscles and much slow progression of muscular weakness and atrophy, compared with other Japanese FALS cases who have no mutation in the Cu/Zn SOD gene.	Familial	XY Liu	00000460
0000000045	-	Isolated (sporadic)	XY Liu	00000472
0000000046	-	Familial, autosomal dominant	XY Liu	00000487
0000000047	A 42-year-old female proband showed the signs and symptoms only in the lower limbs characteristic of lower motor neuron involvement at the onset. ALS had been diagnosed in other five members in three generations of her family.	Familial, autosomal dominant	XY Liu	00006185
0000000048	rapidly progressive familial amyotrophic lateral sclerosis	Familial	XY Liu	00006190
0000000049	-	Familial	XY Liu	00006208
0000000050	-	Familial	XY Liu	00006209
0000000051	-	Familial	XY Liu	00006210
0000000052	-	Familial	XY Liu	00006211
0000000053	-	Familial	XY Liu	00006212
0000000054	-	Familial	XY Liu	00006213
0000000055	-	Isolated (sporadic)	XY Liu	00006214
0000000056	-	Isolated (sporadic)	XY Liu	00006215
0000000057	-	Isolated (sporadic)	XY Liu	00006216
0000000058	-	Familial	XY Liu	00000392
0000000059	-	Familial	XY Liu	00000398
0000000060	-	Familial	XY Liu	00006180
0000000061	-	Familial	XY Liu	00006182
0000000062	-	Familial	XY Liu	00000482
0000000063	-	Isolated (sporadic)	XY Liu	00000446
0000000064	-	Familial	XY Liu	00006183
0000000065	SOD1 activity of the family members carrying the mutation was less than half that of members without the mutation.	Familial	XY Liu	00006184
0000000066	red blood cell SOD1 activity was normal	Isolated (sporadic)	XY Liu	00006217
0000000067	-	Familial	XY Liu	00000395
0000000068	-	Familial	XY Liu	00000409
0000000069	-	Familial	XY Liu	00000416
0000000070	-	Familial	XY Liu	00000421
0000000071	-	Familial	XY Liu	00000434
0000000072	-	Familial	XY Liu	00000438
0000000073	-	Familial	XY Liu	00000486
0000000074	-	Familial	XY Liu	00000503
0000000075	-	Familial	XY Liu	00000513
0000000076	-	Familial	XY Liu	00000545
0000000077	-	Familial	XY Liu	00000563
0000000078	-	Familial	XY Liu	00000401
0000000079	-	Familial	XY Liu	00000444
0000000080	-	Familial	XY Liu	00000449
0000000081	-	Familial	XY Liu	00000468
0000000082	-	Familial	XY Liu	00000481
0000000083	-	Familial	XY Liu	00000509
0000000084	adult-onset	Familial, autosomal recessive	XY Liu	00000549
0000000085	-	Familial	XY Liu	00000397
0000000086	-	Familial	XY Liu	00000463
0000000087	-	Familial	XY Liu	00000541
0000000088	-	Familial	XY Liu	00000567
0000000089	-	Familial	XY Liu	00006186
0000000090	-	Familial	XY Liu	00006187
0000000091	-	Isolated (sporadic)	XY Liu	00006218
0000000092	-	Familial	XY Liu	00000455
0000000093	-	Familial	XY Liu	00000538
0000000094	-	Familial	XY Liu	00000571
0000000095	-	Familial	XY Liu	00006188
0000000096	-	Familial	XY Liu	00006189
0000000097	young-onset	Isolated (sporadic)	XY Liu	00000506
0000000098	-	Familial, autosomal dominant	XY Liu	00000566
0000000099	-	Isolated (sporadic)	XY Liu	00000406
0000000100	-	Isolated (sporadic)	XY Liu	00000553
0000000101	-	Isolated (sporadic)	XY Liu	00000574
0000000102	-	Familial	XY Liu	00000428
0000000103	-	Familial	XY Liu	00000466
0000000104	The patient was in the totally locked-in state and developed autonomic failure followed by sudden cardiac arrest.	-	XY Liu	00006205
0000000105	-	Familial	XY Liu	00000471
0000000106	-	Isolated (sporadic)	XY Liu	00006206
0000000107	-	Familial, autosomal recessive	XY Liu	00000551
0000000108	-	Familial, autosomal recessive	XY Liu	00000576
0000000109	showing mild clinical features and lewy body-like hyaline inclusions	Familial	XY Liu	00006207
0000000110	-	Familial, autosomal recessive	XY Liu	00000631
0000000111	-	Familial	XY Liu	00000624
0000000112	-	Familial	XY Liu	00000391
0000000113	-	Familial, autosomal dominant	XY Liu	00000412
0000000114	-	Familial	XY Liu	00000452
0000000115	-	Familial	XY Liu	00000504
0000000116	-	Familial	XY Liu	00000473
0000000117	-	Isolated (sporadic)	XY Liu	00000512
0000000118	-	Familial	XY Liu	00000439
0000000119	-	Familial	XY Liu	00006220
0000000120	familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy	Familial	XY Liu	00000457
0000000121	-	Familial, autosomal dominant	XY Liu	00000411
0000000122	A 58-year-old woman developed muscle weakness in the legs, and died of respiratory insufficiency 7 months after the onset of her weakness.	Familial	XY Liu	00006221
0000000123	-	Familial	XY Liu	00000479
0000000124	-	Familial	XY Liu	00000539
0000000125	-	Familial	XY Liu	00000443
0000000126	Juvenile amyotrophic lateral sclerosis	-	XY Liu	00000580
0000000127	Juvenile amyotrophic lateral sclerosis	-	XY Liu	00000581
0000000128	-	Familial	XY Liu	00000483
0000000129	-	Familial	XY Liu	00000515
0000000130	-	Familial	XY Liu	00000548
0000000131	-	Familial	XY Liu	00006222
0000000132	-	Isolated (sporadic)	XY Liu	00006223
0000000133	-	Familial	XY Liu	00006224
0000000134	-	Isolated (sporadic)	XY Liu	00006225
0000000135	-	Familial	XY Liu	00006226
0000000136	-	Isolated (sporadic)	XY Liu	00006227
0000000137	Hoarseness due to bilateral vocal cord paralysis	Isolated (sporadic)	XY Liu	00006228
0000000138	Guamanian amyotrophic lateral sclerosis	-	XY Liu	00006229
0000000139	-	Isolated (sporadic)	XY Liu	00000368
0000000140	-	Isolated (sporadic)	XY Liu	00000370
0000000141	amyotrophic lateral sclerosis type 8	-	XY Liu	00006230

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