Congenital disorder of glycosylation type IIe (AR, 608779) |
COG7
| CRVB | – | + | + | Liver disease, cardiac failure, death in infancy, recurrent infections |
Factor V and Factor VIII coagulation factor deficiency (AR, 601567 and 227300) |
LMAN1 (ERGIC-53); MCFD2
| CRVB | – | – | – | Haemophilia due to combined clotting factors V and VIII deficiency |
Hermansky–Pudlak syndrome (AR, 604982, 606118, 606682, 607521, 607522, 608233, 603401, 607145, 609762) |
ADTB3A, HPS-1, HPS3-6, DTNBP1
| CRVB | + | + | + | Patients with HPS1 and HPS4 mutations may have pulmonary fibrosis and colitis |
Chediak–Higashi syndrome (AR, 214500) |
LYST/CHS1
| CRVB | + | – | + | Neutropenia, lymphomas and neurological abnormalities in adulthood |
Cranio–lenticulo–sutural dysplasia (AR, 607812) |
SEC23A
| CRVB | – | – | – | Delayed ossification of cranial bones, hyperpigmentation, cataracts |
Choroideraemia (XL, 300390) |
REP1
| RAR | – | + | – | Degeneration of retinal pigment epithelium and photoreceptors of the eye, atrophy of the retina and choroid, progressive loss of vision beginning at an early age |
Mental retardation (XL, 300104) |
RABGDIA
| RAR | – | + | – | Non-specific mental retardation; carrier female patients may also be mildly affected |
Warburg Micro syndrome and Martsolf syndrome (AR, 600118 and 212720) |
RAB3GAP
| RAR | – | + | – | Cataracts, microphthalmia, microcephaly, microgenitalia |
Bardet–Biedl syndrome, BBS3 (AR, 209900) |
ARL6
| RAR/CRVB | – | + | – | Renal cysts, small stature, mental retardation, retinopathy, cardiac malformations, hypogenitalism |
Griscelli syndrome type I (Elajalde syndrome) (AR, 214450) |
MYO5A (Myosin VA)
| RAR/CSCA | + | + | – | Primary neurological impairment |
Griscelli syndrome type II (AR, 607624) |
RAB27A
| RAR/CSCA | + | + | + | T lymphocyte and macrophage activation syndrome; may have secondary neurological impairment |
Griscelli syndrome type III (AR, 609227) |
MLPH
| RAR/CSCA | + | – | – | Purely a pigmentation disorder |
Charcot–Marie–Tooth disease 2b (hereditary motor and sensory neuropathy type IIB) (AD, 608882) |
RAB7
| RAR/CSCA | – | + | – | Late-onset distal muscle weakness, wasting, foot ulcers and infections |
Charcot–Marie–Tooth disease 2a (hereditary motor and sensory neuropathy type IIA) (AD, 605995) |
KIF1B
| CSCA | – | + | – | One Japanese family described with the onset of symptoms in childhood |
Hereditary spastic paraplegia, SPG10 (AD, 604187) |
KIF5A
| CSCA | – | + | – | Onset of symptoms at 8–40 years of age |
Hereditary spastic paraplegia, SPG4 (AD, 182601) |
SPG4 (SPASTIN)
| CSCA | – | + | – | Gait disturbance due to degeneration of the corticospinal tract with onset at 20–39 years, mild cognitive impairment |
Troyer syndrome, SPG20 (AR, 275900) |
SPG20 (SPARTIN)
| CSCA | – | + | – | Hereditary spastic paraplegia, dysarthria, distal amyotrophy, mild developmental delay, short stature; onset in early childhood |
Spinocerebellar ataxia 5 (AD, 604985) |
Beta-III spectrin
| CSCA | – | + | – | Cerebellar cortex atrophy and purkinje cell loss; onset of disease 10–68 years of age |
Lowe oculocerebrorenal syndrome (OCRL) (XL, 309300) |
OCRL1
| CSCA | – | + | – | Bilateral congenital cataracts, mental retardation and renal Fanconi syndrome Variable life expectancy |
Developmental malformations, deafness, and dystonia (AD, 607371). |
Beta-Actin
| CSCA | – | + | – | Developmental midline malformations, sensory hearing loss, and delayed-onset generalised dystonia syndrome |
Sensorineural deafness: 1) AD, 607841 and AR, 601478 2) AD, 606346 and AR, 607821 3) AR, 600316) |
1) MYO1A, 2)MYO6, 3)MYO15A
| CSCA | – | + | – | Non-syndromic sensorineural deafness |
1) Usher syndrome type IB (AR, 276900) |
MYO7A (Myosin 7)
| CSCA | – | + | + | Usher syndrome phenotype includes profound congenital deafness, vestibular areflexia, progressive retinitis pigmentosa, leading to blindness |
2) Sensorineural deafness (AD, 601317 and AR, 600060) |
(1) Slow progressing amyotrophic lateral sclerosis (ALS8) (AD, 608627); (2) ALS typical, rapidly progressive (AD, 105400); (3) Late-onset spinal muscular atrophy (AD, 182980) |
VAPB
| VTF | – | + | – | Affected patients may have different presentations of motor neuron disease; clinical features are family-specific |
ARC syndrome (AR, 208085) |
VPS33B
| VTF | – | + | + | Congenital abnormalities include arthrogryposis, hypotonia, renal fanconi syndrome, cholestatic jaundice, absence of platelet α granules, prolonged bleeding, recurrent infections, death in infancy |
CEDNIK syndrome (AR, 609528) |
SNAP29
| VTF | – | + | – | Cerebral dysgenesis, neuropathy, ichthyosis and keratoderma; also microcephaly, sensorineural deafness, optic disc hypoplasia, facial dysmorphism, intracranial abnormalities; death <4 months of age |
Familial haemophagocytic lymphohistiocytosis (AR, 608898) |
MUNC13-4 (UNC13D, HPLH3)
| VTF | – | – | + | Infantile-onset activation of T lymphocytes: fever, pancytopenia, coagulopathy, liver failure |
Familial haemophagocytic lymphohistiocytosis (AR, 603552) |
SYNTAXIN 11
| VTF | – | + | + | As above, also severe psychomotor retardation |
Limb girdle muscular dystrophy (AR, 253601); Miyoshi myopathy (AR, 254130) |
DYSFERLIN
| VTF | – | – | – | Limb girdle myopathy and/or distal myopathy; onset 12–39 years of age |