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DIGFAN
MCID: DVL111
MIFTS: 18
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Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy (DIGFAN)
Categories:
Genetic diseases, Neuronal diseases
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Aliases & Classifications for Developmental Delay, Impaired Growth, Dysmorphic Facies, and...
MalaCards integrated aliases for Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy:
Name: Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy
57
6
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
onset in infancy highly variable phenotype and severity de novo mutation (in most cases) Classifications: |
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OMIM® :
57
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN) is a complex neurologic disorder characterized by impaired motor and intellectual development, hypotonia, poor overall growth, usually with short stature and microcephaly, and subtly dysmorphic facial features. Affected individuals have distal muscle weakness and muscle atrophy resulting in delayed acquisition of motor skills and persistent gait abnormalities. Although many patients have clinical and/or electrophysiologic features consistent with an axonal sensorimotor peripheral neuropathy, such as hyporeflexia, impaired sensation, foot drop, and pes cavus, the signs and severity are highly variable. Additional features may include hearing loss, pigmentary retinopathy, and abnormalities on brain imaging, including cerebral or cerebellar atrophy, hypomyelination, and lesions in the basal ganglia or brainstem. In some instances, the same mutation may result in different phenotypic manifestations (CMT2Z or DIGFAN syndrome), which highlights the expanding clinical spectrum associated with MORC2 mutations and may render classification of patients into one or the other disorder challenging (summary by Guillen Sacoto et al., 2020). (619090) (Updated 05-Mar-2021)
MalaCards based summary : Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy, also known as digfan, is related to charcot-marie-tooth disease, axonal, type 2z. An important gene associated with Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy is MORC2 (MORC Family CW-Type Zinc Finger 2). Affiliated tissues include brain and cerebellum. |
Diseases related to Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:619090 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy:40
Brain,
Cerebellum
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Articles related to Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy:
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Genes related to Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy:6
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Search
GEO
for disease gene expression data for Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy.
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