MCID: CNG041
MIFTS: 31

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 54 23 24 25 71 29 13 69
Ccfdn 23 24 25 56 71
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
congenital cataracts-facial dysmorphism-neuropathy syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

54
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 : 71 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 short stature, scoliosis and long eyelashes. 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.

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 : 54
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:

id Related Disease Score Top Affiliating Genes
1 marinesco-sjogren syndrome 11.0
2 cataract 10.2
3 neuropathy 10.2

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

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Eyes:
nystagmus
congenital cataracts
microcorneas

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

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

Skeletal- Limbs:
genu recurvatum

Genitourinary- Internal Genitalia Male:
small testes (in some patients)

Skeletal- Hands:
claw hand

Neurologic- Central Nervous System:
delayed motor development
mental retardation
chorea
ataxia
extensor plantar responses
more
Skeletal- Spine:
kyphoscoliosis

Skeletal- Feet:
talipes equinovarus
pes cavus

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

Head And Neck- Teeth:
bimaxillary dentoalveolar protrusion (protruding upper and lower front teeth)

Muscle Soft Tissue:
rhabdomyolysis, acute


Clinical features from OMIM:

604168

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

56 32 (show top 50) (show all 53)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
3 long eyelashes 56 32 frequent (33%) Frequent (79-30%) HP:0000527
4 nystagmus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000639
5 ataxia 56 32 Very frequent (99-80%) HP:0001251
6 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
7 ventriculomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002119
8 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
9 kyphosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002808
10 intrauterine growth retardation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001511
11 microphthalmia 56 32 frequent (33%) Frequent (79-30%) HP:0000568
12 osteoporosis 56 32 frequent (33%) Frequent (79-30%) HP:0000939
13 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
14 microcornea 56 32 occasional (7.5%) Occasional (29-5%) HP:0000482
15 hypoglycemia 56 32 frequent (33%) Frequent (79-30%) HP:0001943
16 cataract 56 32 hallmark (90%) Very frequent (99-80%) HP:0000518
17 cerebral cortical atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0002120
18 intellectual disability, mild 56 32 hallmark (90%) Very frequent (99-80%) HP:0001256
19 intention tremor 56 32 hallmark (90%) Very frequent (99-80%) HP:0002080
20 dysmetria 56 32 hallmark (90%) Very frequent (99-80%) HP:0001310
21 paresthesia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003401
22 motor axonal neuropathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0007002
23 hypogonadotrophic hypogonadism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000044
24 abnormal pyramidal signs 56 32 occasional (7.5%) Occasional (29-5%) HP:0007256
25 abnormality of peripheral nerve conduction 56 32 hallmark (90%) Very frequent (99-80%) HP:0003134
26 camptodactyly of finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0100490
27 abnormality of the cervical spine 56 32 frequent (33%) Frequent (79-30%) HP:0003319
28 malar prominence 56 32 hallmark (90%) Very frequent (99-80%) HP:0010620
29 acute rhabdomyolysis 56 32 frequent (33%) Frequent (79-30%) HP:0008942
30 congenital cataract 32 HP:0000519
31 chorea 32 HP:0002072
32 cognitive impairment 32 HP:0100543
33 cerebral atrophy 32 HP:0002059
34 kyphoscoliosis 32 HP:0002751
35 talipes equinovarus 32 HP:0001762
36 intellectual disability 32 HP:0001249
37 pes cavus 32 HP:0001761
38 motor delay 32 HP:0001270
39 hypergonadotropic hypogonadism 32 HP:0000815
40 primary amenorrhea 32 occasional (7.5%) HP:0000786
41 sensory neuropathy 56 Very frequent (99-80%)
42 babinski sign 32 HP:0003487
43 split hand 32 HP:0001171
44 genu recurvatum 32 HP:0002816
45 decreased testicular size 32 occasional (7.5%) HP:0008734
46 decreased serum estradiol 32 HP:0008214
47 abnormal facial shape 32 HP:0001999
48 decreased motor nerve conduction velocity 32 HP:0003431
49 motor polyneuropathy 32 HP:0007178
50 peripheral demyelination 32 HP:0011096

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:


id 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:

id Genetic test Affiliating Genes
1 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 29 24 CTDP1

Anatomical Context for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

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

39
Eye, Spinal Cord, Testes

Publications for Congenital Cataracts, Facial Dysmorphism, and Neuropathy

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

id 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
id 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

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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