MCID: CNG041
MIFTS: 30

Congenital Cataracts, Facial Dysmorphism, and Neuropathy

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

MalaCards integrated aliases for Congenital Cataracts, Facial Dysmorphism, and Neuropathy:

Name: Congenital Cataracts, Facial Dysmorphism, and Neuropathy 57 24 25 75 37 29 13 6 73
Ccfdn 57 24 25 59 75
Cataract, Congenital, with Facial Dysmorphism and Neuropathy 57
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome 59
Cataracts, Congenital, Facial Dysmorphism, and Neuropathy 40

Characteristics:

Orphanet epidemiological data:

59
congenital cataracts-facial dysmorphism-neuropathy syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
neuropathy becomes apparent in childhood
prevalent in bulgarian gypsies
distinct disorder from marinesco-sjogren syndrome (mss, )


HPO:

32
congenital cataracts, facial dysmorphism, and neuropathy:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

UniProtKB/Swiss-Prot : 75 Congenital cataracts, facial dysmorphism, and neuropathy: An autosomal recessive developmental disorder characterized by a complex clinical phenotype with seemingly unrelated features involving multiple organs and systems. Developmental abnormalities include congenital cataracts and microcorneae, hypomyelination of the peripheral nervous system, impaired physical growth, delayed early motor and intellectual development, facial dysmorphism and hypogonadism. Central nervous system involvement, with cerebral and spinal cord atrophy, may be the result of disrupted development with superimposed degenerative changes. Affected individuals are prone to severe rhabdomyolysis after viral infections and to serious complications related to general anesthesia (such as pulmonary edema and epileptic seizures).

MalaCards based summary : Congenital Cataracts, Facial Dysmorphism, and Neuropathy, also known as ccfdn, is related to marinesco-sjogren syndrome and cataract, and has symptoms including ataxia and abnormal pyramidal signs. An important gene associated with Congenital Cataracts, Facial Dysmorphism, and Neuropathy is CTDP1 (CTD Phosphatase Subunit 1). Affiliated tissues include eye, spinal cord and testes, and related phenotypes are nystagmus and ataxia

Genetics Home Reference : 25 Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is a rare disorder that affects several parts of the body. It is characterized by a clouding of the lens of the eyes at birth (congenital cataracts) and other eye abnormalities, such as small or poorly developed eyes (microphthalmia) and abnormal eye movements (nystagmus). Affected individuals, particularly males, often have distinctive facial features that become more apparent as they reach adulthood. These features include a prominent midface, a large nose, protruding teeth, and a small lower jaw.

OMIM : 57 Congenital cataracts, facial dysmorphism, and neuropathy is an autosomal recessive disorder that is prevalent among Bulgarian Gypsies. Additional features include delayed psychomotor development, skeletal anomalies, and hypogonadism. The predominantly motor neuropathy becomes evident during childhood and progresses to severe disability by the third decade (Tournev et al., 1999). CCFDN is genetically distinct from Marinesco-Sjogren syndrome (MSS; 248800), although the 2 disorders share some overlapping features, including congenital cataracts, delayed psychomotor development, and ataxia (Merlini et al., 2002). (604168)

GeneReviews: NBK25565

Related Diseases for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

Diseases related to Congenital Cataracts, Facial Dysmorphism, and Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 marinesco-sjogren syndrome 11.1
2 cataract 10.3
3 neuropathy 10.3

Symptoms & Phenotypes for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
congenital cataracts
microcorneas

Growth Height:
short stature

Skeletal Feet:
pes cavus
talipes equinovarus

Skeletal Spine:
kyphoscoliosis

Neurologic Peripheral Nervous System:
decreased motor nerve conduction velocities (ncv)
demyelination
motor neuropathy beginning in lower limbs
upper limb motor neuropathy occurs later
nerve biopsy shows hypomyelination
more
Head And Neck Teeth:
bimaxillary dentoalveolar protrusion (protruding upper and lower front teeth)

Genitourinary Internal Genitalia Female:
primary amenorrhea (in some patients)

Neurologic Central Nervous System:
ataxia
chorea
cerebral atrophy
delayed motor development
mental retardation
more
Skeletal Limbs:
genu recurvatum

Endocrine Features:
hypogonadotrophic hypogonadism
decreased serum estradiol
hypergonadotrophic hypogonadism
decreased serum testosterone
low-to-normal serum growth hormone

Head And Neck Face:
facial dysmorphism
prominent midface
thickening of perioral tissues
mandibular retrognathism

Skeletal Hands:
claw hand

GenitourinaryInternal GenitaliaMale:
small testes (in some patients)

Muscle Soft Tissue:
rhabdomyolysis, acute


Clinical features from OMIM:

604168

Human phenotypes related to Congenital Cataracts, Facial Dysmorphism, and Neuropathy:

59 32 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 ataxia 59 32 Very frequent (99-80%) HP:0001251
3 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
4 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
5 abnormal pyramidal signs 59 32 occasional (7.5%) Occasional (29-5%) HP:0007256
6 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
7 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 abnormality of peripheral nerve conduction 59 32 hallmark (90%) Very frequent (99-80%) HP:0003134
9 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
10 intellectual disability, mild 59 32 hallmark (90%) Very frequent (99-80%) HP:0001256
11 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
12 hypoglycemia 59 32 frequent (33%) Frequent (79-30%) HP:0001943
13 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
14 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
15 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
16 dysmetria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001310
17 intention tremor 59 32 hallmark (90%) Very frequent (99-80%) HP:0002080
18 hypogonadotrophic hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000044
19 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
20 cerebral cortical atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002120
21 paresthesia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003401
22 microphthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000568
23 long eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000527
24 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
25 microcornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000482
26 abnormality of the cervical spine 59 32 frequent (33%) Frequent (79-30%) HP:0003319
27 malar prominence 59 32 hallmark (90%) Very frequent (99-80%) HP:0010620
28 motor axonal neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0007002
29 acute rhabdomyolysis 59 32 frequent (33%) Frequent (79-30%) HP:0008942
30 intellectual disability 32 HP:0001249
31 chorea 32 HP:0002072
32 abnormality of the dentition 32 HP:0000164
33 abnormal facial shape 32 HP:0001999
34 cognitive impairment 32 HP:0100543
35 sensory neuropathy 59 Very frequent (99-80%)
36 genu recurvatum 32 HP:0002816
37 primary amenorrhea 32 occasional (7.5%) HP:0000786
38 babinski sign 32 HP:0003487
39 pes cavus 32 HP:0001761
40 decreased motor nerve conduction velocity 32 HP:0003431
41 hypergonadotropic hypogonadism 32 HP:0000815
42 decreased testicular size 32 occasional (7.5%) HP:0008734
43 talipes equinovarus 32 HP:0001762
44 split hand 32 HP:0001171
45 motor delay 32 HP:0001270
46 peripheral demyelination 32 HP:0011096
47 kyphoscoliosis 32 HP:0002751
48 decreased serum estradiol 32 HP:0008214
49 cerebral atrophy 32 HP:0002059
50 congenital cataract 32 HP:0000519

UMLS symptoms related to Congenital Cataracts, Facial Dysmorphism, and Neuropathy:


ataxia, abnormal pyramidal signs

Drugs & Therapeutics for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natural History in CCFDN and IBM Syndromes Completed NCT01902940

Search NIH Clinical Center for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

Genetic Tests for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

Genetic tests related to Congenital Cataracts, Facial Dysmorphism, and Neuropathy:

# Genetic test Affiliating Genes
1 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 29 CTDP1

Anatomical Context for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

MalaCards organs/tissues related to Congenital Cataracts, Facial Dysmorphism, and Neuropathy:

41
Eye, Spinal Cord, Testes

Publications for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

Articles related to Congenital Cataracts, Facial Dysmorphism, and Neuropathy:

# Title Authors Year
1
Congenital Cataracts, Facial Dysmorphism, and Neuropathy Syndrome: Additional Clinical Features. ( 28041656 )
2016
2
Congenital cataracts, facial dysmorphism, and neuropathy syndrome. ( 21824574 )
2011
3
Congenital Cataracts, Facial Dysmorphism, and Neuropathy ( 20301787 )
1993

Variations for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

ClinVar genetic disease variations for Congenital Cataracts, Facial Dysmorphism, and Neuropathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CTDP1 NM_004715.4(CTDP1): c.863+389C> T single nucleotide variant Pathogenic rs113994102 GRCh37 Chromosome 18, 77470825: 77470825
2 CTDP1 NM_004715.4(CTDP1): c.863+389C> T single nucleotide variant Pathogenic rs113994102 GRCh38 Chromosome 18, 79710825: 79710825
3 CTDP1 NM_004715.4(CTDP1): c.1461G> A (p.Pro487=) single nucleotide variant Benign rs2126082 GRCh37 Chromosome 18, 77474921: 77474921
4 CTDP1 NM_004715.4(CTDP1): c.1461G> A (p.Pro487=) single nucleotide variant Benign rs2126082 GRCh38 Chromosome 18, 79714921: 79714921
5 CTDP1 NM_004715.4(CTDP1): c.978G> A (p.Thr326=) single nucleotide variant Benign rs599554 GRCh37 Chromosome 18, 77473086: 77473086
6 CTDP1 NM_004715.4(CTDP1): c.978G> A (p.Thr326=) single nucleotide variant Benign rs599554 GRCh38 Chromosome 18, 79713086: 79713086

Expression for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

Search GEO for disease gene expression data for Congenital Cataracts, Facial Dysmorphism, and Neuropathy.

Pathways for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

GO Terms for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

Sources for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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