Anemia, and Thin skin

Diseases related with Anemia and Thin skin

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


Top matches:

Medium match HEPATOERYTHROPOIETIC PORPHYRIA


Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis.

HEPATOERYTHROPOIETIC PORPHYRIA Is also known as hep

Related symptoms:

  • Hemolytic anemia
  • Cutaneous photosensitivity
  • Thin skin


SOURCES: ORPHANET MENDELIAN

More info about HEPATOERYTHROPOIETIC PORPHYRIA

Medium match PORPHYRIA CUTANEA TARDA


Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980).De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (OMIM ), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980).PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (OMIM ) that are responsible for hereditary hemochromatosis (OMIM ) (review by Lambrecht et al., 2007).

PORPHYRIA CUTANEA TARDA Is also known as uroporphyrinogen decarboxylase deficiency|pct|pct, type ii|pct, 'familial' type|urod deficiency|porphyria cutanea tarda, type ii|porphyria, hepatocutaneous type

Related symptoms:

  • Anemia
  • Edema
  • Alopecia
  • Carcinoma
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORPHYRIA CUTANEA TARDA

Medium match HEREDITARY COPROPORPHYRIA


Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.

HEREDITARY COPROPORPHYRIA Is also known as cpox deficiency|cpx deficiency|coproporphyrinogen oxidase deficiency|cpo deficiency

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Hypertension


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY COPROPORPHYRIA

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match COATS PLUS SYNDROME


Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.

COATS PLUS SYNDROME Is also known as cerebroretinal microangiopathy with calcifications and cysts|coats plus syndrome|crmcc

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COATS PLUS SYNDROME

Medium match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Medium match DK1-CDG


DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

DK1-CDG Is also known as cdg-im|cdg im|hypotonia and ichthyosis due to dolichol phosphate deficiency|cdg syndrome type im|congenital disorder of glycosylation type im|congenital disorder of glycosylation type 1m|cdgim|dk1 deficiency|cdg1m|carbohydrate deficient glycoprotein syndr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DK1-CDG

Medium match XERODERMA PIGMENTOSUM


Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

XERODERMA PIGMENTOSUM Is also known as xeroderma pigmentosum i|xp1|xp, group a|xp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM

Low match STUVE-WIEDEMANN SYNDROME


Stuve-Wiedemann syndrome (STWS) is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, and respiratory and feeding distress usually resulting in early death (Dagoneau et al., 2004).See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1 ), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (OMIM ) on chromosome 1p36.

STUVE-WIEDEMANN SYNDROME Is also known as sws|schwartz-jampel syndrome, type 2|stws|stuve-wiedemann/schwartz-jampel type 2 syndrome|schwartz-jampel syndrome, neonatal|sjs2

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about STUVE-WIEDEMANN SYNDROME

Low match SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY


Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.

SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY Is also known as autosomal recessive thrombophilia due to congenital protein s deficiency

Related symptoms:

  • Retinopathy
  • Abnormality of skin pigmentation
  • Thin skin
  • Skin ulcer
  • Purpura


SOURCES: ORPHANET MENDELIAN

More info about SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY

Low match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2


PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 Is also known as cushing syndrome, adrenal, due to ppnad2|pigmented micronodular adrenocortical disease, primary, 2

Related symptoms:

  • Hypertension
  • Kyphosis
  • Depressivity
  • Osteoporosis
  • Osteopenia


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2

Top 5 symptoms//phenotypes associated to Anemia and Thin skin

Symptoms // Phenotype % cases
Cutaneous photosensitivity Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Dry skin Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Anemia and Thin skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Mental deterioration Osteoporosis Hyperkeratosis Growth delay Scoliosis Global developmental delay Elevated hepatic transaminase Splenomegaly Hepatomegaly Peripheral neuropathy Strabismus Hemolytic anemia Inflammatory abnormality of the skin Erythema Alopecia

Rare Symptoms - Less than 30% cases


Psychosis Generalized hypotonia Hypermelanotic macule Aminoaciduria Prolonged neonatal jaundice Opacification of the corneal stroma Failure to thrive Hypopigmented skin patches Ataxia Cirrhosis Skin rash Spasticity Optic atrophy Thrombocytopenia Abnormality of the liver Osteopenia High palate Retinopathy Pathologic fracture Abnormal facial shape Micrognathia Hearing impairment Intellectual disability Short nose Malar flattening Recurrent infections Carcinoma Cognitive impairment Bone marrow hypocellularity Telangiectasia Abnormality of extrapyramidal motor function Recurrent fractures Skin ulcer Genu valgum Recurrent pneumonia Muscular hypotonia Aplasia/Hypoplasia of the skin Pruritus Apnea Fragile skin Fever Generalized hirsutism Muscle weakness Pain Vomiting Diarrhea Hepatitis Abnormality of metabolism/homeostasis Depressivity Arrhythmia Hypertrichosis Abnormal blistering of the skin Anxiety Hepatosplenomegaly Cerebral cortical atrophy Myalgia Arthralgia Flexion contracture Feeding difficulties Myopia Frontal bossing Short neck Cataract Sensorineural hearing impairment Cryptorchidism Low-set ears Dysphagia Choreoathetosis Flat nasal alae Abnormality of the skeletal system Talipes equinovarus Respiratory failure Neoplasm Respiratory insufficiency Abnormal isoelectric focusing of serum transferrin Hyperhidrosis Type I transferrin isoform profile Decreased testicular size Patent ductus arteriosus Reduced antithrombin III activity Epileptic spasms Visual loss Neoplasm of the eye Adactyly Aplasia of the fingers Microcephaly Clinodactyly Midface retrusion Respiratory distress Fatigue Thickened skin Defective DNA repair after ultraviolet radiation damage Squamous cell carcinoma Hypogonadism Intellectual disability, progressive Neoplasm of the skin Reduced tendon reflexes Melanoma Dermal atrophy Pterygium Ectropion Melanocytic nevus Hypoketotic hypoglycemia Myocarditis Delayed skeletal maturation Hyporeflexia Keratitis Macule Ankyloblepharon Congenital hepatic fibrosis Papilloma Conjunctivitis EEG abnormality Photophobia Conjunctival telangiectasia Entropion Craniofacial hyperostosis Freckling Developmental regression Poikiloderma Blepharitis Abnormality of the dentition Abnormal vertebral morphology Telangiectasia of the skin Aplasia/Hypoplasia of the nipples Spastic paraparesis Skeletal dysplasia Smooth tongue Metaphyseal rarefaction Pulmonary arterial medial hypertrophy Blotching pigmentation of the skin Abnormal metaphyseal trabeculation Absent patellar reflexes Broad ischia Shivering Increased upper to lower segment ratio Hypoplastic iliac body Purpura Contracture of the proximal interphalangeal joint of the 5th finger Elevated pulmonary artery pressure Pursed lips Mitochondrial respiratory chain defects Square face Multiple skeletal anomalies Talipes valgus Thickened cortex of long bones Abnormality of skin pigmentation Pulmonary embolism Temperature instability Agitation Primary hypercortisolism Pigmented micronodular adrenocortical disease Mood changes Decreased circulating ACTH level Adrenal hyperplasia Increased circulating cortisol level Striae distensae Truncal obesity Round face Gangrene Bruising susceptibility Kyphosis Subcutaneous hemorrhage Thrombophlebitis Venous insufficiency Arterial thrombosis Abnormality of the cerebral vasculature Deep venous thrombosis Broad long bones Flexion contracture of toe Camptodactyly Short palpebral fissure Paraparesis Abnormal autonomic nervous system physiology Elbow flexion contracture Narrow face Hoarse voice Sensorimotor neuropathy Short phalanx of finger Bowing of the long bones Pulmonary arterial hypertension Abnormality of dental enamel Decreased fetal movement Limb undergrowth Single transverse palmar crease Small hand Pulmonary hypoplasia Hepatic failure Talipes Corneal opacity Knee flexion contracture Lipoatrophy Wide nasal base Hypokinesia Ulnar deviation of the hand Enlarged joints Megaloblastic anemia Short tibia Episodic fever Ulnar deviation of finger Impaired pain sensation Thin ribs Tibial bowing Adducted thumb Femoral bowing Flared metaphysis Mask-like facies Myotonia Cubitus valgus Congenital contracture Metaphyseal widening Patent foramen ovale Nasal speech Microcytic anemia Diffuse telangiectasia Neurodevelopmental delay Tremor Nail dystrophy Small for gestational age Abnormal pyramidal sign Sparse hair Postnatal growth retardation Dystonia Blindness Intrauterine growth retardation Abnormality of movement Dysarthria Acute episodes of neuropathic symptoms Red urine Abdominal colic Respiratory paralysis Compensated hemolytic anemia Congenital hemolytic anemia Abnormality of the cerebral white matter Gastrointestinal hemorrhage Paranoia Short femoral neck Intestinal bleeding Morphological abnormality of the pyramidal tract Esophageal varix Oral leukoplakia Calcinosis Hematochezia Abnormality of the vasculature Portal hypertension Nail dysplasia Hemiplegia Increased susceptibility to fractures Leukoencephalopathy Leukodystrophy Hemiparesis Cerebral calcification Febrile seizures Delirium Auditory hallucinations Retinal exudate Atypical scarring of skin Porphyrinuria Viral hepatitis Facial hypertrichosis Congenital hypoplastic anemia Alcoholism Anemia of inadequate production Onycholysis Hepatocellular carcinoma Behavioral abnormality Scleroderma Skin vesicle Cerebral palsy Hyperpigmentation of the skin Sudden cardiac death Hepatic steatosis Edema Hyperpigmentation in sun-exposed areas Areflexia Ileus Tachycardia Visual hallucinations Insomnia Orthostatic hypotension Hyponatremia Hallucinations Hypotension Metabolic acidosis Nausea Constipation Paresthesia Confusion Nausea and vomiting Paralysis Irritability Jaundice Acidosis Abdominal pain Metaphyseal sclerosis Retinal telangiectasia Abnormality of coagulation Nystagmus Hypoglycemia Elevated serum creatine phosphokinase Absent speech Dilatation Renal insufficiency Congestive heart failure Cardiomyopathy Recurrent cystitis Ichthyosis Crusting erythematous dermatitis Facial hirsutism Poliosis Abnormality of the middle ear White forelock Concave nasal ridge Chronic lung disease Dilated cardiomyopathy Neutropenia Abnormality of the immune system Severe muscular hypotonia Bilateral talipes equinovarus Hyperglycemia Ventricular fibrillation Erythroderma Sacral dimple Ventricular tachycardia Leukopenia Sparse eyelashes Tetraplegia Aspiration Bradycardia Sparse and thin eyebrow Postnatal microcephaly Hypsarrhythmia Cyanosis Abnormal bleeding Hypoplasia of the zygomatic bone Abnormality of the hip bone Exudative retinopathy Intellectual disability, severe Papule High forehead Proptosis Prominent forehead Recurrent respiratory infections Obesity Intellectual disability, mild Downslanted palpebral fissures Arachnodactyly Depressed nasal bridge Visual impairment Delayed speech and language development Ptosis Hypertelorism Decreased pulmonary function Spastic hemiparesis Carious teeth Hirsutism Elevated erythrocyte sedimentation rate Bilateral single transverse palmar creases Petechiae Increased antibody level in blood Osteomyelitis Psoriasiform dermatitis Systemic lupus erythematosus Reduced bone mineral density Abnormality of the fingernails Low anterior hairline Palmoplantar keratoderma Lymphedema Abnormality of retinal pigmentation Abnormal lung morphology Depressed nasal ridge Low posterior hairline Dehydration Convex nasal ridge Asthma Paradoxical increased cortisol secretion on dexamethasone suppression test



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Renal hypoplasia, related diseases and genetic alterations Lymphoma and Flat face, related diseases and genetic alterations Ptosis and Protruding ear, related diseases and genetic alterations Spasticity and Alopecia, related diseases and genetic alterations Cognitive impairment and Gait ataxia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more