Ataxia, and Abnormality of skin pigmentation

Diseases related with Ataxia and Abnormality of skin pigmentation

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

Top matches:

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

Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL ) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by Lee and Hegele, 2014).

ABETALIPOPROTEINEMIA; ABL Is also known as microsomal triglyceride transfer protein deficiency|acanthocytosis|bassen-kornzweig syndrome|mtp deficiency

Related symptoms:

  • Ataxia
  • Peripheral neuropathy
  • Rod-cone dystrophy
  • Abnormality of the liver
  • Retinopathy


SOURCES: OMIM MENDELIAN

More info about ABETALIPOPROTEINEMIA; ABL

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Anemia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

Other less relevant matches:

X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.

X-LINKED SIDEROBLASTIC ANEMIA Is also known as anemia, hereditary sideroblastic|xlsa|anemia, hypochromic|anemia, sideroblastic, x-linked|anh1|hereditary iron-loading anemia

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Anemia
  • Hepatomegaly
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED SIDEROBLASTIC ANEMIA

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

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

Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

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

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-pruni√Čras 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 REVESZ SYNDROME

Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.

REVESZ SYNDROME Is also known as exudative retinopathy with bone marrow failure|dkca5|dyskeratosis congenita, autosomal dominant 5|dyskeratosis congenita with bilateral exudative retinopathy|retinopathy-anemia-central nervous system anomalies syndrome|revesz-debuse syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Nystagmus
  • Anemia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about REVESZ SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Abnormality of skin pigmentation

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypopigmentation of the skin Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Hypertonia Seizures Hearing impairment Cerebellar hypoplasia Retinopathy Premature graying of hair Microcephaly Spasticity

Rare Symptoms - Less than 30% cases

Myopia Hypopigmentation of hair Cerebral calcification White eyebrow Pallor Piebaldism Sparse hair Scoliosis Growth delay White hair Wide nasal bridge Intrauterine growth retardation Oral leukoplakia Hyperpigmentation of the skin Bone marrow hypocellularity Fine hair Partial albinism White eyelashes Short stature Synophrys Hypocholesterolemia White forelock Hypopigmented skin patches Heterochromia iridis Blue irides Aganglionic megacolon Abnormality of movement Nail dystrophy Cirrhosis Telecanthus Alopecia Constipation Spastic paraparesis Absent speech Failure to thrive Midface retrusion Intestinal obstruction Low-set ears Congenital sensorineural hearing impairment Hypoganglionosis Polyneuropathy Microcolon Unilateral ptosis Leukodystrophy Albinism Carious teeth Broad-based gait Silver-gray hair Generalized bronze hyperpigmentation Accumulation of melanosomes in melanocytes Melanin pigment aggregation in hair shafts Abnormality of metabolism/homeostasis Progressive neurologic deterioration Purpura Iris hypopigmentation Megalocornea Aplastic anemia Nail pits Ridged fingernail Leukocoria Reticulated skin pigmentation Exudative retinopathy Hemophagocytosis Freckling Pancytopenia Abnormality of calvarial morphology Intellectual disability, profound CNS hypomyelination Neoplasm Long philtrum Neoplasm of the skin Abnormality of the ear Macule Spotty hypopigmentation Hyperlipidemia Poliosis Absent pigmentation of the ventral chest Generalized hypotonia Recurrent infections Exotropia Diplopia Severe muscular hypotonia Intellectual disability, mild Muscle stiffness Ptosis Optic disc pallor Abetalipoproteinemia Fever Edema Depressivity Arthritis Nyctalopia Rheumatoid arthritis CNS demyelination Retinal atrophy Anisocytosis Macular edema Juvenile rheumatoid arthritis Poikilocytosis Retinal pigment epithelial atrophy Elliptocytosis Decreased LDL cholesterol concentration Fat malabsorption Epiretinal membrane Abnormality of the liver Immunodeficiency Hypermetropia Telangiectasia Chromosomal breakage induced by ionizing radiation Peripheral neuropathy Rod-cone dystrophy Malabsorption Cholestatic liver disease Retinal degeneration Hepatic steatosis Peripheral demyelination Abnormality of the coagulation cascade Steatorrhea Acanthocytosis Spinocerebellar tract degeneration Decreased mean corpuscular volume Decreased serum iron Sensorineural hearing impairment Rigidity Thiamine-responsive megaloblastic anemia Strabismus Optic atrophy Tremor Recurrent respiratory infections Cerebral cortical atrophy Specific learning disability Abnormality of iron homeostasis Macular dystrophy Generalized hyperpigmentation Abnormality of the optic nerve Subcortical cerebral atrophy Abnormality of the cerebellar vermis Cerebral cortical hemiatrophy Aplasia/Hypoplasia of the macula Hypolipidemia Sideroblastic anemia Ring scotoma Elevated hepatic transaminase Photoreceptor layer loss on macular OCT Muscle weakness Hepatomegaly Fatigue Splenomegaly Dyspnea Hepatosplenomegaly Vertigo Hypochromic microcytic anemia Falls Myelodysplasia Glucose intolerance Microcytic anemia Macrocytic anemia Megaloblastic anemia Anemia of inadequate production Fine, reticulate skin pigmentation


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