DIGFAN
MCID: DVL111
MIFTS: 18

Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy (DIGFAN)

Categories: Genetic diseases, Neuronal diseases

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
Digfan 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
highly variable phenotype and severity
de novo mutation (in most cases)


Classifications:



External Ids:

OMIM® 57 619090

Summaries for Developmental Delay, Impaired Growth, Dysmorphic Facies, and...

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-Apr-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.

Related Diseases for Developmental Delay, Impaired Growth, Dysmorphic Facies, and...

Diseases related to Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2z 10.9

Symptoms & Phenotypes for Developmental Delay, Impaired Growth, Dysmorphic Facies, and...

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
kyphosis

Neurologic Central Nervous System:
tremor
global developmental delay
toe walking
motor delay
brain atrophy
more
Head And Neck Mouth:
high palate
thin upper lip
oromotor dyspraxia

Growth Height:
short stature

Skeletal Hands:
brachydactyly
clinodactyly
claw hands

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
sensorimotor axonal peripheral neuropathy

Head And Neck Nose:
broad nasal tip

Growth Other:
poor overall growth

Skeletal Limbs:
contractures

Endocrine Features:
hypothyroidism (in some patients)
precocious puberty (in some patients)

Head And Neck Eyes:
ptosis
strabismus
myopia
deep-set eyes
hyperopia
more
Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
feeding difficulties

Head And Neck Head:
microcephaly

Head And Neck Teeth:
dental crowding

Head And Neck Face:
long face
narrow jaw
dysmorphic facial features

Skeletal Feet:
pes cavus
foot deformities
foot drop
hammertoes
broad toes
more
Muscle Soft Tissue:
hypotonia
proximal muscle weakness (in some patients)
lower and upper limbs affected
muscle weakness, distal, due to peripheral neuropathy
muscle atrophy, distal, due to peripheral neuropathy

Skeletal:
contractures

Head And Neck Ears:
sensorineural hearing loss (in some patients)

Clinical features from OMIM®:

619090 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental Delay, Impaired Growth, Dysmorphic Facies, and...

Search Clinical Trials , NIH Clinical Center for Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy

Genetic Tests for Developmental Delay, Impaired Growth, Dysmorphic Facies, and...

Anatomical Context for Developmental Delay, Impaired Growth, Dysmorphic Facies, and...

MalaCards organs/tissues related to Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy:

40
Brain, Cerebellum

Publications for Developmental Delay, Impaired Growth, Dysmorphic Facies, and...

Articles related to Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy:

(showing 4, show less)
# Title Authors PMID Year
1
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. 6 57
32693025 2020
2
Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan. 57 6
28771897 2017
3
Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations. 57
27105897 2016
4
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. 57
26497905 2016

Variations for Developmental Delay, Impaired Growth, Dysmorphic Facies, and...

ClinVar genetic disease variations for Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy:

6 (showing 4, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MORC2 NM_001303256.3(MORC2):c.1292C>T (p.Ala431Val) SNV Pathogenic 992666 GRCh37: 22:31333879-31333879
GRCh38: 22:30937892-30937892
2 MORC2 NM_001303256.3(MORC2):c.71C>T (p.Thr24Ile) SNV Pathogenic 804228 rs1602510214 GRCh37: 22:31354678-31354678
GRCh38: 22:30958692-30958692
3 MORC2 NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys) SNV Pathogenic 804164 rs1602510200 GRCh37: 22:31354670-31354670
GRCh38: 22:30958684-30958684
4 MORC2 NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) SNV Pathogenic 422103 rs1064795559 GRCh37: 22:31342360-31342360
GRCh38: 22:30946373-30946373

Expression for Developmental Delay, Impaired Growth, Dysmorphic Facies, and...

Search GEO for disease gene expression data for Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy.

Pathways for Developmental Delay, Impaired Growth, Dysmorphic Facies, and...

GO Terms for Developmental Delay, Impaired Growth, Dysmorphic Facies, and...

Sources for Developmental Delay, Impaired Growth, Dysmorphic Facies, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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