Ataxia, and Hypopigmentation of the skin

Diseases related with Ataxia and Hypopigmentation of the skin

In the following list you will find some of the most common rare diseases related to Ataxia and Hypopigmentation of the skin that can help you solving undiagnosed cases.


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Low match NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER


Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.

NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER Is also known as microcephaly and chromosomal instability without immunodeficiency|nbsld|microcephaly and spontaneous chromosome instability without immunodeficiency|nbs-like disorder|rad50 deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Ataxia
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER

Low match NEUROECTODERMAL MELANOLYSOSOMAL DISEASE


Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.

NEUROECTODERMAL MELANOLYSOSOMAL DISEASE Is also known as elejalde disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about NEUROECTODERMAL MELANOLYSOSOMAL DISEASE

Low match WAARDENBURG SYNDROME, TYPE 4A; WS4A


Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 4A is caused by mutation in the EDNRB gene (OMIM ). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III (WS3 ) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). Genetic Heterogeneity of Waardenburg Syndrome Type 4Waardenburg syndrome type 4 is genetically heterogeneous. WS4B (OMIM ) is caused by mutation in the EDN3 gene (OMIM ) on chromosome 20q13, and WS4C (OMIM ) is caused by mutation in the SOX10 gene (OMIM ) on chromosome 22q13.

WAARDENBURG SYNDROME, TYPE 4A; WS4A Is also known as waardenburg-shah syndrome|waardenburg syndrome, type iva|ws4|waardenburg syndrome with hirschsprung disease, type 4a|shah-waardenburg syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 4A; WS4A

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Other less relevant matches:

Low match PIEBALDISM


Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.

PIEBALDISM Is also known as piebaldism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Neoplasm


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PIEBALDISM

Low match GRISCELLI SYNDROME TYPE 1


Griscelli syndrome type 1 (GS1) represents hypomelanosis with a primary neurologic deficit and without immunologic impairment or manifestations of hemophagocytic syndrome (Menasche et al., 2002). Griscelli syndrome with immune impairment, or Griscelli syndrome type 2 (OMIM ), is caused by mutation in the RAB27A gene (OMIM ). Griscelli syndrome type 3 (OMIM ), characterized by hypomelanosis with no immunologic or neurologic manifestations, can be caused by mutation in the melanophilin (MLPH ) or MYO5A genes.Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. While most patients also develop hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation (Menasche et al., 2000), some show severe neurologic impairment early in life without apparent immune abnormalities. Bahadoran et al. (2003) characterized GS1 as comprising hypomelanosis and severe central nervous system dysfunction, corresponding to the 'dilute' phenotype in the mouse, and GS2 as comprising hypomelanosis and lymphohistiocytotic hemophagocytosis, corresponding to the 'ashen' phenotype in mouse.Anikster et al. (2002), Menasche et al. (2002), Huizing et al. (2002), and {3,2:Bahadoran et al. (2003, 2003)} suggested that Elejalde syndrome (OMIM ) in some patients and GS1 represent the same entity.

GRISCELLI SYNDROME TYPE 1 Is also known as partial albinism and primary neurologic disease without hemophagocytic syndrome|griscelli syndrome, cutaneous and neurologic type|griscelli-pruniÉras syndrome type 1|hypopigmentation-neurologic impairment syndrome|griscelli syndrome with neurologic impair

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GRISCELLI SYNDROME TYPE 1

Low match AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3


The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.

AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3 Is also known as cpd iii|scar2|cpd3|cerebellar granular cell hypoplasia and mental retardation, congenital|autosomal recessive spinocerebellar ataxia type 2|cerebellar hypoplasia, nonprogressive norman type|cerebelloparenchymal disorder iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3

Low match WAARDENBURG SYNDROME, TYPE 2E; WS2E


Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E, which is caused by mutation in the SOX10 gene (OMIM ), may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).For a description of other clinical variants of Waardenburg syndrome, see WS1 (OMIM ), WS3 (OMIM ), and WS4 (OMIM ).

WAARDENBURG SYNDROME, TYPE 2E; WS2E Is also known as hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation|waardenburg syndrome, type 2e, with or without neurologic involvement|ws2e, with or without neurologic involvement|waardenburg syndrome, type iie

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 2E; WS2E

Low match SEA-BLUE HISTIOCYTOSIS


A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.

SEA-BLUE HISTIOCYTOSIS Is also known as sea-blue histiocytosis|histiocytosis, sea-blue

Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Hepatomegaly
  • Gait disturbance


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SEA-BLUE HISTIOCYTOSIS

Low match HERMANSKY-PUDLAK SYNDROME TYPE 7


HERMANSKY-PUDLAK SYNDROME TYPE 7 Is also known as hps7

Related symptoms:

  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Respiratory distress
  • Reduced visual acuity


SOURCES: ORPHANET OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME TYPE 7

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23


Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23 Is also known as spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|lison syndrome|spg23|spastic paraparesis, vitiligo, premature graying, characteristic facies|spastic paraplegia with pigmentary abnormalities

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Ataxia
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23

Top 5 symptoms//phenotypes associated to Ataxia and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Premature graying of hair Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Hypopigmentation of the skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


White hair Spasticity Hearing impairment Seizures Microcephaly Heterochromia iridis Sensorineural hearing impairment Wide nasal bridge Aganglionic megacolon Hypopigmented skin patches Blue irides Gait disturbance White forelock Generalized hypotonia White eyebrow Cafe-au-lait spot Ocular albinism Short stature White eyelashes Albinism Hypertonia

Rare Symptoms - Less than 30% cases


Tremor Synophrys Piebaldism Partial albinism Silver-gray hair Cerebellar hypoplasia Congenital sensorineural hearing impairment Spastic paraparesis Peripheral neuropathy Abnormal bleeding Scoliosis Hyperreflexia Generalized hypopigmentation Telecanthus Abnormality of movement Cognitive impairment Hypopigmentation of the fundus Hypopigmentation of hair Abnormality of the nervous system Retinopathy Mediastinal lymphadenopathy Subcutaneous nodule Hyperpigmentation of the skin Purpura Mucopolysacchariduria Petechiae Chronic myelogenous leukemia Autoimmune thrombocytopenia Histiocytosis Bowel urgency Blepharitis Pulmonary infiltrates Hypertriglyceridemia Paraparesis Cirrhosis Dilated vestibule of the inner ear CNS hypomyelination Severe sensorineural hearing impairment Hypoplasia of the iris Misalignment of teeth Cerebral hypomyelination Hypoplasia of the semicircular canal Aplasia of the semicircular canal Hyperpigmentation in sun-exposed areas Leukemia Hepatomegaly Edema Splenomegaly Thrombocytopenia Dementia Hyperpigmented nevi Hepatosplenomegaly Abnormality of the eye Absent axillary hair Epistaxis Elevated serum acid phosphatase Lower limb muscle weakness Progeroid facial appearance Retrognathia Vitiligo Hip dislocation Progressive spastic paraplegia Spastic paraplegia Axonal degeneration Paraplegia Sepsis Babinski sign Nevus Bowel incontinence Abnormality of the genitourinary system Sensory impairment Waddling gait Febrile seizures Spastic gait Narrow face Kyphoscoliosis Flexion contracture Sea-blue histiocytosis Optic nerve hypoplasia Muscle weakness Respiratory distress Reduced visual acuity Astigmatism Bruising susceptibility Horseshoe kidney Abnormal lung morphology Flexion contracture of toe Intracranial hemorrhage Micrognathia Menorrhagia Interstitial pulmonary abnormality Multiple lentigines Colitis Hypoplasia of the fovea Progressive spastic paraparesis Impaired platelet aggregation Hyperopic astigmatism Anosmia Intention tremor Bilateral sensorineural hearing impairment Neoplasm Abnormality of skin pigmentation Polyneuropathy Leukodystrophy Intestinal obstruction Unilateral ptosis Microcolon Hypoganglionosis Anemia Ptosis Long philtrum Neoplasm of the skin Abnormality of the ear Macule Abnormality of calvarial morphology Spotty hypopigmentation Poliosis Absent pigmentation of the ventral chest Intellectual disability, mild Aplasia/Hypoplasia of the macula Cerebral calcification Recurrent respiratory infections Immunodeficiency Hypermetropia Telangiectasia Chromosomal breakage induced by ionizing radiation Strabismus Myopia Optic atrophy Cerebral cortical atrophy Cerebral cortical hemiatrophy Rigidity Specific learning disability Muscle stiffness Macular dystrophy Generalized hyperpigmentation Abnormality of the optic nerve Subcortical cerebral atrophy Abnormality of the cerebellar vermis Recurrent infections Exotropia Delayed eruption of teeth Abnormality of the retinal vasculature Gliosis Limb ataxia Incoordination Dysdiadochokinesis Gaze-evoked nystagmus Hyperactive deep tendon reflexes Enlarged cisterna magna Dilated fourth ventricle Unsteady gait Saccadic smooth pursuit Nonprogressive cerebellar ataxia Visual impairment Abnormality of the dentition Dilatation Pectus excavatum Autism Muscular hypotonia of the trunk Abnormal cerebellum morphology Dysmetria Diplopia Cataract Severe muscular hypotonia Hyperlipidemia Freckling Iris hypopigmentation Hemophagocytosis Generalized bronze hyperpigmentation Accumulation of melanosomes in melanocytes Melanin pigment aggregation in hair shafts Delayed speech and language development Malabsorption Motor delay Dysarthria Cerebellar atrophy Behavioral abnormality Hyporeflexia Pes cavus Gait ataxia Pes planus Premature graying of body hair



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Macrocephaly and Ascites, related diseases and genetic alterations Tremor and Facial palsy, related diseases and genetic alterations Edema and Ambiguous genitalia, related diseases and genetic alterations Peripheral neuropathy and Squamous cell carcinoma, related diseases and genetic alterations Cataract and Open mouth, related diseases and genetic alterations Scoliosis and Astigmatism, related diseases and genetic alterations

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